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Wilson Disease

Definition

Wilson disease causes a buildup of copper in the body. It is very rare.

Copper is a mineral we get from food. Our bodies need it in small amounts. Too much copper can be poisonous.
We eat much more copper than we need. The copper needs to be passed out of our bodies. People with Wilson disease cannot pass the copper they do not need. The copper builds up in the body and damages organs like the liver, brain, kidneys, and eyes.

Causes

Wilson disease is a genetic disorder. A faulty gene causes this system to malfunction. Both parents must have the faulty gene in order for the child to develop the disease. People with only one faulty gene may never have symptoms. However, they can pass the gene on to their children.

Risk Factors

The only known factor that increases your risk for Wilson disease is a family history of the disease.
It tends to be most common in eastern Europeans, Sicilians, and southern Italians.

Symptoms

It may take some time for copper to build up. At first, the liver will hold the excess copper. Eventually, the liver will not be able to hold the copper. Copper will begin to leave the liver and move to other organs like the brain or eyes. Symptoms usually begin under 40 years of age, typically at ages 6-20 years. They can be present as early as 5 years of age.

Symptoms of excess copper in the eyes include Kayser-Fleischer rings, which are rusty or brown-colored rings around the iris.

Symptoms may also occur due to anemia, infections, poor blood clotting, kidney damage, or bone and joint disease from the extra copper

Diagnosis

Wilson disease is rare. It is fatal unless it is treated before serious illness develops. Symptoms may be attributed to other more common causes like hepatitis or cirrhosis. You may also appear healthy even while your liver is getting damaged. However, it is important to get diagnosed and treated early. This will help to avoid organ damage and early death.

Your doctor will ask about your symptoms and medical history. A physical and mental exam will be done. Your eyes will be examined for brown, ring-shaped color in the cornea (Kayser-Fleischer rings).

Your bodily fluids and tissues may be tested for copper. This can be done with:

Prevention

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.